Incidental Mutation 'IGL03061:Snx19'
ID 409462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx19
Ensembl Gene ENSMUSG00000031993
Gene Name sorting nexin 19
Synonyms 3526401K03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL03061
Quality Score
Status
Chromosome 9
Chromosomal Location 30338404-30378029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30344928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 676 (F676I)
Ref Sequence ENSEMBL: ENSMUSP00000131895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164099] [ENSMUST00000216545]
AlphaFold Q6P4T1
Predicted Effect probably damaging
Transcript: ENSMUST00000164099
AA Change: F676I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: F676I

DomainStartEndE-ValueType
transmembrane domain 29 46 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Pfam:PXA 96 269 2.9e-43 PFAM
low complexity region 324 335 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
low complexity region 504 528 N/A INTRINSIC
PX 533 664 1.83e-24 SMART
Pfam:Nexin_C 843 951 1.9e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216552
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in Snx19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Snx19 APN 9 30,340,380 (GRCm39) missense possibly damaging 0.92
IGL00498:Snx19 APN 9 30,340,233 (GRCm39) missense possibly damaging 0.92
IGL00718:Snx19 APN 9 30,343,622 (GRCm39) missense probably damaging 1.00
IGL00902:Snx19 APN 9 30,340,028 (GRCm39) missense possibly damaging 0.90
IGL01433:Snx19 APN 9 30,340,067 (GRCm39) missense possibly damaging 0.93
IGL01668:Snx19 APN 9 30,339,119 (GRCm39) missense probably benign
IGL01732:Snx19 APN 9 30,373,649 (GRCm39) missense probably damaging 1.00
IGL01767:Snx19 APN 9 30,374,560 (GRCm39) missense possibly damaging 0.95
IGL02638:Snx19 APN 9 30,343,660 (GRCm39) missense possibly damaging 0.52
IGL02718:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02719:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02723:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02724:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02725:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02892:Snx19 APN 9 30,339,660 (GRCm39) missense probably damaging 1.00
IGL03402:Snx19 APN 9 30,351,430 (GRCm39) missense possibly damaging 0.89
R0125:Snx19 UTSW 9 30,351,515 (GRCm39) missense probably damaging 1.00
R0133:Snx19 UTSW 9 30,339,912 (GRCm39) missense possibly damaging 0.94
R0196:Snx19 UTSW 9 30,344,683 (GRCm39) missense probably damaging 1.00
R0423:Snx19 UTSW 9 30,347,133 (GRCm39) missense probably damaging 1.00
R0635:Snx19 UTSW 9 30,340,107 (GRCm39) missense probably damaging 1.00
R0635:Snx19 UTSW 9 30,340,106 (GRCm39) missense probably damaging 1.00
R1068:Snx19 UTSW 9 30,340,314 (GRCm39) missense probably damaging 0.99
R1570:Snx19 UTSW 9 30,339,639 (GRCm39) missense probably damaging 1.00
R1727:Snx19 UTSW 9 30,344,662 (GRCm39) missense probably damaging 1.00
R1895:Snx19 UTSW 9 30,343,620 (GRCm39) missense probably damaging 1.00
R1907:Snx19 UTSW 9 30,344,872 (GRCm39) missense probably damaging 0.99
R1946:Snx19 UTSW 9 30,343,620 (GRCm39) missense probably damaging 1.00
R1989:Snx19 UTSW 9 30,339,404 (GRCm39) missense possibly damaging 0.93
R2029:Snx19 UTSW 9 30,340,296 (GRCm39) missense probably benign 0.01
R2914:Snx19 UTSW 9 30,344,828 (GRCm39) unclassified probably benign
R3880:Snx19 UTSW 9 30,373,688 (GRCm39) missense probably damaging 1.00
R4223:Snx19 UTSW 9 30,339,744 (GRCm39) missense possibly damaging 0.95
R4415:Snx19 UTSW 9 30,348,779 (GRCm39) missense probably damaging 0.99
R4438:Snx19 UTSW 9 30,339,895 (GRCm39) missense probably benign 0.01
R4484:Snx19 UTSW 9 30,339,192 (GRCm39) missense probably benign 0.01
R4585:Snx19 UTSW 9 30,351,491 (GRCm39) missense probably damaging 1.00
R4765:Snx19 UTSW 9 30,351,453 (GRCm39) missense probably damaging 1.00
R4771:Snx19 UTSW 9 30,344,934 (GRCm39) missense probably damaging 1.00
R4922:Snx19 UTSW 9 30,348,763 (GRCm39) missense probably benign 0.25
R5096:Snx19 UTSW 9 30,340,082 (GRCm39) missense probably benign 0.40
R5464:Snx19 UTSW 9 30,339,269 (GRCm39) missense possibly damaging 0.54
R6469:Snx19 UTSW 9 30,339,039 (GRCm39) missense possibly damaging 0.50
R6886:Snx19 UTSW 9 30,340,231 (GRCm39) missense probably damaging 1.00
R6988:Snx19 UTSW 9 30,340,231 (GRCm39) missense probably damaging 1.00
R7131:Snx19 UTSW 9 30,339,189 (GRCm39) missense probably damaging 1.00
R7268:Snx19 UTSW 9 30,351,473 (GRCm39) missense probably damaging 1.00
R7772:Snx19 UTSW 9 30,340,221 (GRCm39) missense probably damaging 0.99
R8087:Snx19 UTSW 9 30,375,698 (GRCm39) missense probably benign
R8211:Snx19 UTSW 9 30,348,761 (GRCm39) missense probably benign
R8283:Snx19 UTSW 9 30,374,522 (GRCm39) missense possibly damaging 0.56
R9000:Snx19 UTSW 9 30,375,619 (GRCm39) missense unknown
R9383:Snx19 UTSW 9 30,347,196 (GRCm39) missense probably damaging 1.00
R9436:Snx19 UTSW 9 30,374,602 (GRCm39) missense possibly damaging 0.55
R9782:Snx19 UTSW 9 30,340,172 (GRCm39) missense probably benign 0.00
X0019:Snx19 UTSW 9 30,348,662 (GRCm39) missense probably damaging 1.00
X0024:Snx19 UTSW 9 30,339,017 (GRCm39) missense probably benign 0.04
Posted On 2016-08-02